A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442383



Internal ID15289336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247589278..247589329hg38UCSC Ensembl
Innerchr1:247589285..247589322hg38UCSC Ensembl
Outerchr1:247589234..247589373hg38UCSC Ensembl
chr1:247752580..247752631hg19UCSC Ensembl
Innerchr1:247752587..247752624hg19UCSC Ensembl
Outerchr1:247752536..247752675hg19UCSC Ensembl
chr1:245819203..245819254hg18UCSC Ensembl
Innerchr1:245819247..245819210hg18UCSC Ensembl
Outerchr1:245819159..245819298hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8904039, essv8904038, essv8904040
SamplesNA12751, NA12750, NA12249
Known GenesOR2G2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442383
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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